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| Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141 |
| Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A |
| Ref : Eur Journal of Medical Genetics , 53 :141 , 2010 |
| Abstract : Emre_2010_Eur.J.Med.Genet_53_141 |
| ESTHER : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141 |
| PubMedID: 20307695 |
| Title : Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis - |
| Author(s) : Olcay L , Gumruk F , Boduroglu K , Coskun T , Tuncbilek E |
| Ref : J Inherit Metab Dis , 21 :679 , 1998 |
| PubMedID: 9762607 |
| Gene_locus related to this paper: human-CTSA |